A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984277



Internal ID12976723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42986935..43207440hg38UCSC Ensembl
Innerchr19:43491087..43711592hg19UCSC Ensembl
Innerchr19:48182927..48403432hg18UCSC Ensembl
Innerchr19:48182927..48403432hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38220506
hg19220506
hg18220506
hg17220506
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751794
Supporting Variants
SamplesBEC_683
Known GenesPSG11, PSG2, PSG4, PSG5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984277
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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